GJB3 [The Human Chemical-Genetic Interaction Map Project]

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======= GJB3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GJB3
  * **<color #00a2e8>Official Name</color>**: gap junction protein beta 3
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2707|2707]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O75712|O75712]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GJB3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GJB3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603324|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Connexin|
|Connexin CCC|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|gap junction channel activity|
|gap junction|
|connexin complex|
|cellular response to retinoic acid|
|response to retinoic acid|
|placenta development|
|cellular response to acid chemical|
|response to acid chemical|
|in utero embryonic development|
|skin development|
|reproductive structure development|
|reproductive system development|
|cellular response to lipid|
|spermatogenesis|
|cell junction|
|male gamete generation|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|developmental process involved in reproduction|
|intracellular membrane-bounded organelle|
|gamete generation|
|multicellular organismal reproductive process|
|sexual reproduction|
|multicellular organism reproduction|
|response to lipid|
|embryo development|
|multi-organism reproductive process|
|cellular response to oxygen-containing compound|
|transmembrane transport|
|reproductive process|
|reproduction|
|response to oxygen-containing compound|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp508|NN-Dimethylsphingosine 2.5μM R08 exp508]]|1.73|
|[[:results:exp347|Cyclosporin-A 0.8μM R07 exp347]]|1.89|
|[[:results:exp429|Rapamycin 0.001μM R08 exp429]]|1.96|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 4817
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -7.68 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GJB3 Expression in NALM6 Cells: -7.68'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>